Canonical Allele Identifier: CA1561747
Community Standard Title: NM_145038.5(DRC1):c.109dup (p.Gln37ProfsTer30)
Gene: DRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26402098dup , CM000664.2:g.26402098dup GRCh38
NC_000002.11:g.26624966dup , CM000664.1:g.26624966dup GRCh37
NC_000002.10:g.26478470dup NCBI36
NG_042824.1:g.5187dup

Transcript Alleles

HGVS Amino-acid Change
NM_145038.5:c.109dup MANE Select NP_659475.2:p.Gln37ProfsTer30
ENST00000288710.7:c.109dup MANE Select ENSP00000288710.2:p.Gln37ProfsTer30
NM_145038.3:c.109dup NP_659475.2:p.Gln37ProfsTer30
NM_145038.4:c.109dup NP_659475.2:p.Gln37ProfsTer30
ENST00000288710.6:c.109dup ENSP00000288710.2:p.Gln37ProfsTer30
ENST00000421869.5:c.109dup ENSP00000414375.1:p.Gln37ProfsTer30
ENST00000649059.1:c.95dup
XM_005264637.3:c.-326dup XP_005264694.1:n.-326dup
XM_017005271.1:c.-772dup XP_016860760.1:n.-772dup
XM_024453218.1:c.-588dup XP_024308986.1:n.-588dup